Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Gln244Ter (p.Q244*)
(
ENST00000403665.7 )
F11 p.Gln244Ter (p.Q244*) ( ENST00000403665.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.730C>T (p.Gln244Ter) AND not provided
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 186685
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.730C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001248521
Drugs